Concepedia

María José Trujillo-Tiebas

MJ

Statistics

Publications

38

Citations

1.5K

H-Index

22

Active since

2005

Affiliations

Hospital Universitario Fundación Jiménez Díaz(Current)

Centre for Biomedical Network Research on Rare Diseases

Instituto de Salud Carlos III

Universidad Autónoma de Madrid

Hospital Clínico San Carlos

María José Trujillo-Tiebas is an author at Hospital Universitario Fundación Jiménez Díaz specializing in medicine, genetics, and prenatal diagnosis.

Top concepts

Publications per year

2005–2023

38

Publications

38

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Irene Perea‐Romero, Gema Gordo, Ionut-Florin Iancu et al. · Scientific Reports · 2021 · 154 citations · Full text

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

Almudena Ávila‐Fernández, Diego Cantalapiedra, Elena Aller et al. · PubMed · 2010 · 105 citations · Full text

<i>C9ORF72</i> hexanucleotide expansions of 20–22 repeats are associated with frontotemporal deterioration

Estrella Gómez‐Tortosa, Rosa Guerrero, Alberto Marcos et al. · Neurology · 2013 · 94 citations

Mutation Screening of 299 Spanish Families with Retinal Dystrophies by Leber Congenital Amaurosis Genotyping Microarray

Elena Vallespín, Diego Cantalapiedra, Rosa Riveiro-Álvarez et al. · Investigative Ophthalmology & Visual Science · 2007 · 85 citations

Prenatal diagnosis of 46, XX male fetus

María José Trujillo-Tiebas, Cristina González-González, Isabel Lorda‐Sánchez et al. · Journal of Assisted Reproduction and Genetics · 2006 · 80 citations · Full text

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